Mutagenetix > Incidental Mutation

Incidental Mutation 'R0518:Clasrp'

48295

Institutional Source

Beutler Lab

Gene Symbol

Clasrp

Ensembl Gene

ENSMUSG00000061028

Gene Name

CLK4-associating serine/arginine rich protein

Synonyms

SWAP2, Sfrs16, Srsf16

MMRRC Submission

038711-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0518 (G1)

Quality Score

123

Status

Not validated

Chromosome

Chromosomal Location

19314960-19338411 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19322528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 284 (I284T)

Ref Sequence

ENSEMBL: ENSMUSP00000147103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086041] [ENSMUST00000207524] [ENSMUST00000207663] [ENSMUST00000207907] [ENSMUST00000208068]

AlphaFold

Q8CFC7

Predicted Effect

probably benign
Transcript: ENSMUST00000086041
AA Change: I284T

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000083205
Gene: ENSMUSG00000061028
AA Change: I284T

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
DRY_EERY	39	171	1.28e-64	SMART
low complexity region	172	212	N/A	INTRINSIC
low complexity region	241	260	N/A	INTRINSIC
low complexity region	263	283	N/A	INTRINSIC
low complexity region	302	324	N/A	INTRINSIC
low complexity region	339	368	N/A	INTRINSIC
low complexity region	372	446	N/A	INTRINSIC
low complexity region	453	476	N/A	INTRINSIC
low complexity region	480	532	N/A	INTRINSIC
coiled coil region	574	630	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207447

Predicted Effect

probably benign
Transcript: ENSMUST00000207524

Predicted Effect

probably benign
Transcript: ENSMUST00000207663

Predicted Effect

probably benign
Transcript: ENSMUST00000207907
AA Change: I284T

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000208068
AA Change: I284T

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209059

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene contains serine/arginine (SR) dipeptide repeat domains, and is thought to be involved in the regulation of alternative splicing. This protein is thought to interact with, and be phosphorylated by, Clk4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,181,112 (GRCm39)		probably null	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Acsm5	T	C	7: 119,135,023 (GRCm39)	V327A	possibly damaging	Het
Agt	C	A	8: 125,283,839 (GRCm39)	E427*	probably null	Het
Akr1c14	T	C	13: 4,131,016 (GRCm39)	L236S	probably damaging	Het
Ammecr1l	C	T	18: 31,904,954 (GRCm39)	S65L	probably benign	Het
Ankrd33b	T	C	15: 31,367,432 (GRCm39)	D36G	probably damaging	Het
Ano8	A	T	8: 71,931,902 (GRCm39)	C766S	probably benign	Het
Arhgef16	G	T	4: 154,375,491 (GRCm39)	P168T	probably damaging	Het
Asic1	C	T	15: 99,596,700 (GRCm39)	R499C	probably damaging	Het
Atpsckmt	T	G	15: 31,606,103 (GRCm39)	S20R	probably benign	Het
Bank1	C	T	3: 135,919,703 (GRCm39)	C364Y	probably damaging	Het
Bmerb1	T	A	16: 13,804,676 (GRCm39)	S8T	possibly damaging	Het
Cacna1s	C	A	1: 136,004,597 (GRCm39)	D132E	probably benign	Het
Capn5	C	T	7: 97,782,089 (GRCm39)	R217Q	probably damaging	Het
Coa3	T	A	11: 101,169,716 (GRCm39)	K13M	probably damaging	Het
Col13a1	A	T	10: 61,698,525 (GRCm39)	M512K	unknown	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crhbp	C	A	13: 95,580,403 (GRCm39)		probably null	Het
Cryba2	T	C	1: 74,929,284 (GRCm39)	Y153C	possibly damaging	Het
Cryzl2	T	C	1: 157,292,000 (GRCm39)	V93A	probably damaging	Het
Ctsl	G	A	13: 64,513,032 (GRCm39)	L297F	possibly damaging	Het
Cyp2r1	T	G	7: 114,152,135 (GRCm39)	H274P	probably benign	Het
Ddx4	A	T	13: 112,761,313 (GRCm39)		probably null	Het
Dnai4	A	C	4: 102,921,727 (GRCm39)	Y464*	probably null	Het
Dnd1	A	G	18: 36,897,096 (GRCm39)	V350A	possibly damaging	Het
Dsg1b	A	T	18: 20,521,221 (GRCm39)	Q26L	probably benign	Het
Fam20b	C	A	1: 156,515,026 (GRCm39)	V280F	possibly damaging	Het
Foxb2	G	T	19: 16,849,820 (GRCm39)	C395*	probably null	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Gm9930	A	T	10: 9,410,547 (GRCm39)		noncoding transcript	Het
Hdac7	G	A	15: 97,704,380 (GRCm39)	Q497*	probably null	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Hsd3b7	A	G	7: 127,402,251 (GRCm39)	T330A	probably benign	Het
Il20ra	A	T	10: 19,635,388 (GRCm39)	Q543L	probably damaging	Het
Itk	T	A	11: 46,251,115 (GRCm39)	D163V	probably damaging	Het
Kcnu1	T	G	8: 26,400,916 (GRCm39)	L688R	probably damaging	Het
Kng1	G	A	16: 22,879,232 (GRCm39)	A45T	possibly damaging	Het
Kti12	T	A	4: 108,705,776 (GRCm39)	V230E	possibly damaging	Het
Lhfpl7	T	A	5: 113,383,873 (GRCm39)	L97*	probably null	Het
Mgat5	T	A	1: 127,312,584 (GRCm39)	I241N	probably damaging	Het
Mkln1	A	G	6: 31,445,067 (GRCm39)	N321S	probably benign	Het
Mllt10	T	G	2: 18,076,017 (GRCm39)		probably null	Het
Ms4a1	C	A	19: 11,236,043 (GRCm39)		probably null	Het
Ngly1	C	T	14: 16,290,774 (GRCm38)	Q419*	probably null	Het
Nipsnap3b	T	A	4: 53,021,343 (GRCm39)	F243I	probably damaging	Het
Ogfod1	T	A	8: 94,781,876 (GRCm39)		probably null	Het
Or10a2	T	A	7: 106,673,965 (GRCm39)	L310Q	possibly damaging	Het
Or2y11	C	T	11: 49,443,291 (GRCm39)	T239M	probably damaging	Het
Or51v8	T	A	7: 103,319,696 (GRCm39)	I181F	possibly damaging	Het
Or8c20	A	C	9: 38,260,499 (GRCm39)	N40T	probably damaging	Het
P2ry14	T	A	3: 59,022,625 (GRCm39)	E287D	probably damaging	Het
Pank4	A	T	4: 155,061,082 (GRCm39)	R510S	possibly damaging	Het
Pcsk6	T	A	7: 65,629,915 (GRCm39)	V347E	possibly damaging	Het
Peg3	T	C	7: 6,714,427 (GRCm39)	E265G	probably damaging	Het
Pik3c2b	C	A	1: 133,033,730 (GRCm39)	P1578H	probably damaging	Het
Pkd1	A	G	17: 24,814,193 (GRCm39)	S4188G	probably benign	Het
Ppp1r26	A	G	2: 28,342,314 (GRCm39)	D648G	probably damaging	Het
Ptprs	A	G	17: 56,726,621 (GRCm39)		probably null	Het
Rab24	A	T	13: 55,468,738 (GRCm39)		probably null	Het
Rap1gap2	A	T	11: 74,332,592 (GRCm39)	M71K	probably damaging	Het
Rergl	T	G	6: 139,473,524 (GRCm39)	K42T	probably damaging	Het
Rigi	C	T	4: 40,216,354 (GRCm39)		probably null	Het
Septin5	T	C	16: 18,443,647 (GRCm39)	T92A	probably benign	Het
Ski	A	G	4: 155,243,743 (GRCm39)		probably null	Het
Slc17a8	A	G	10: 89,412,192 (GRCm39)	S414P	probably benign	Het
Slc25a36	A	T	9: 96,979,228 (GRCm39)	I71N	probably damaging	Het
Syne2	A	C	12: 76,155,636 (GRCm39)		probably null	Het
Tdrd5	C	A	1: 156,090,511 (GRCm39)	W845L	probably damaging	Het
Tfb2m	T	C	1: 179,365,389 (GRCm39)	I192V	possibly damaging	Het
Tll1	T	G	8: 64,551,505 (GRCm39)	D292A	probably damaging	Het
Trank1	A	C	9: 111,162,876 (GRCm39)	D45A	probably damaging	Het
Trim17	T	A	11: 58,859,320 (GRCm39)	V178E	probably damaging	Het
Trim9	A	T	12: 70,393,359 (GRCm39)	L195Q	probably damaging	Het
Ttc27	A	T	17: 75,163,544 (GRCm39)	R717S	possibly damaging	Het
Upk2	G	T	9: 44,365,418 (GRCm39)	P50Q	probably damaging	Het
Usp9y	A	T	Y: 1,307,880 (GRCm39)	C2319S	probably benign	Het
Vmn1r4	G	T	6: 56,933,883 (GRCm39)	C129F	probably benign	Het
Vmn2r100	A	T	17: 19,742,178 (GRCm39)	D184V	probably damaging	Het
Xpnpep3	T	G	15: 81,311,693 (GRCm39)	I133S	possibly damaging	Het
Zfp628	A	T	7: 4,922,939 (GRCm39)	Q387L	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het

Other mutations in Clasrp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02394:Clasrp	APN	7	19,337,179 (GRCm39)	missense	probably damaging	1.00
clarissa	UTSW	7	19,324,173 (GRCm39)	missense	possibly damaging	0.82
suet	UTSW	7	19,320,393 (GRCm39)	utr 3 prime	probably benign
R0519:Clasrp	UTSW	7	19,318,089 (GRCm39)	utr 3 prime	probably benign
R0521:Clasrp	UTSW	7	19,322,528 (GRCm39)	missense	probably benign	0.32
R0626:Clasrp	UTSW	7	19,318,418 (GRCm39)	utr 3 prime	probably benign
R0826:Clasrp	UTSW	7	19,318,226 (GRCm39)	utr 3 prime	probably benign
R1918:Clasrp	UTSW	7	19,319,188 (GRCm39)	nonsense	probably null
R2044:Clasrp	UTSW	7	19,320,640 (GRCm39)	utr 3 prime	probably benign
R2256:Clasrp	UTSW	7	19,320,510 (GRCm39)	utr 3 prime	probably benign
R2257:Clasrp	UTSW	7	19,320,510 (GRCm39)	utr 3 prime	probably benign
R2870:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R2870:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R2871:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R2871:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R2940:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R3408:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R3691:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R4168:Clasrp	UTSW	7	19,315,079 (GRCm39)	unclassified	probably benign
R4496:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R4505:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R4507:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R4572:Clasrp	UTSW	7	19,318,389 (GRCm39)	splice site	probably null
R4753:Clasrp	UTSW	7	19,328,865 (GRCm39)	missense	probably damaging	1.00
R4871:Clasrp	UTSW	7	19,324,173 (GRCm39)	missense	possibly damaging	0.82
R4938:Clasrp	UTSW	7	19,318,703 (GRCm39)	splice site	probably null
R5538:Clasrp	UTSW	7	19,318,707 (GRCm39)	utr 3 prime	probably benign
R5582:Clasrp	UTSW	7	19,320,781 (GRCm39)	missense	probably damaging	0.97
R5615:Clasrp	UTSW	7	19,320,372 (GRCm39)	utr 3 prime	probably benign
R5794:Clasrp	UTSW	7	19,325,034 (GRCm39)	missense	probably damaging	0.99
R5944:Clasrp	UTSW	7	19,328,431 (GRCm39)	missense	probably damaging	1.00
R6102:Clasrp	UTSW	7	19,320,393 (GRCm39)	utr 3 prime	probably benign
R6171:Clasrp	UTSW	7	19,318,747 (GRCm39)	splice site	probably benign
R6485:Clasrp	UTSW	7	19,320,294 (GRCm39)	utr 3 prime	probably benign
R6600:Clasrp	UTSW	7	19,324,207 (GRCm39)	nonsense	probably null
R7383:Clasrp	UTSW	7	19,319,198 (GRCm39)	missense	unknown
R7719:Clasrp	UTSW	7	19,321,769 (GRCm39)	missense	probably damaging	0.99
R7750:Clasrp	UTSW	7	19,318,516 (GRCm39)	makesense	probably null
R7808:Clasrp	UTSW	7	19,322,671 (GRCm39)	splice site	probably null
R8192:Clasrp	UTSW	7	19,329,387 (GRCm39)	missense	possibly damaging	0.83
R8820:Clasrp	UTSW	7	19,320,362 (GRCm39)	missense	unknown
R8821:Clasrp	UTSW	7	19,320,362 (GRCm39)	missense	unknown
R8924:Clasrp	UTSW	7	19,318,232 (GRCm39)	missense	unknown
R9471:Clasrp	UTSW	7	19,319,172 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGCTAACCTTACACTGTCACAC -3'
(R):5'- AACATCAGGTCCCTGCTGTCTTTG -3'

Sequencing Primer
(F):5'- TCTAGACCCTGTAGAGATGACACTG -3'
(R):5'- CATGCCAAAGCCCTGGAG -3'

Posted On

2013-06-12